FBN1 c.2260T>C ;(p.Y754H)

Variant ID: 15-48789496-A-G

NM_000138.4(FBN1):c.2260T>C;(p.Y754H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


First genetic analysis of aneurysm genes in familial and sporadic abdominal aortic aneurysm.

Human Genetics
van de Luijtgaarden, Koen M KM; Heijsman, Daphne D; Maugeri, Alessandra A; Weiss, Marjan M MM; Verhagen, Hence J M HJ; IJpma, Arne A; Brüggenwirth, Hennie T HT; Majoor-Krakauer, Danielle D
Publication Date: 2015-08

Variant appearance in text: FBN1: 2260T>C; Tyr754His
PubMed Link: 26017485
Variant Present in the following documents:
  • Main text
  • 439_2015_Article_1567.pdf
View BVdb publication page